Biotinidase Deficiency

Biotinidasbrist

Engelsk definition

The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Biotinidase Deficiencies Deficiencies, Biotinidase Deficiency, Biotinidase Deficiency, Multiple Carboxylase, Late-Onset Late-Onset Multiple Carboxylase Deficiency Late Onset Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Late Onset BTD Deficiency BTD Deficiencies Deficiencies, BTD Deficiency, BTD Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Late Onset Biotin Responsive Multiple Carboxylase Deficiency